• PMID: 30246678
• Gene Name: TOR1A
• Condition: Important for spermatogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Important for spermatogenesis

TorsinA Is Functionally Associated with Spermatogenesis

Serrano JB, Martins F, Pereira CD, van Pelt AMM, da Cruz E Silva OAB, Rebelo S.

TorsinA is a member of the AAA+ superfamily of adenosine triphosphatases. These AAA+ proteins have numerous biological functions, including vesicle fusion, cytoskeleton dynamics, intracellular trafficking, protein folding, and degradation as well as organelle biogenesis. Of particular interest is torsinA, which is mainly located in the endoplasmic reticulum (ER) and nuclear envelope (NE). Interestingly, mutations in the TOR1A gene (the gene encoding torsinA) are associated with DYT1 dystonia and with the preferential localization of mutated torsinA at the NE, where it is associated with lamina-associated polypeptide 1. A bioinformatics study of the torsinA interactome revealed reproductive processes to be highly relevant, as proteins in this class were found to interact with the former. Interestingly, the torsin protein family had never been previously described to be associated with the mammalian spermatogenic process. Histological staining of torsinA in human testis tissue revealed a granular cytoplasmic localization in mid- and late spermatocytes. We further sought to understand this newly discovered expression of torsinA in the meiotic phase of human spermatogenesis by studying its specific subcellular distribution. TorsinA is not present in the ER as commonly described. The proposal that torsinA might relocate to the pro-acrosomal vesicles in the Golgi apparatus is discussed. FAU - Serrano, Joana B AU - Serrano JB AD - 1Neuroscience and Signalling Laboratory,Department of Medical Sciences,Institute of Biomedicine (iBiMED),University of Aveiro,3810-193 Aveiro,Portugal. FAU - Martins, Filipa AU - Martins F AD - 1Neuroscience and Signalling Laboratory,Department of Medical Sciences,Institute of Biomedicine (iBiMED),University of Aveiro,3810-193 Aveiro,Portugal. FAU - Pereira, Cátia D AU - Pereira CD AD - 1Neuroscience and Signalling Laboratory,Department of Medical Sciences,Institute of Biomedicine (iBiMED),University of Aveiro,3810-193 Aveiro,Portugal. FAU - van Pelt, Ans M M AU - van Pelt AMM AD - 2Center for Reproductive Medicine, Research Institute Reproduction and Development, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. FAU - da Cruz E Silva, Odete A B AU - da Cruz E Silva OAB AD - 1Neuroscience and Signalling Laboratory,Department of Medical Sciences,Institute of Biomedicine (iBiMED),University of Aveiro,3810-193 Aveiro,Portugal.